chr16:2110791:G>A Detail (hg19) (TSC2)

Information

Genome

Assembly Position
hg19 chr16:2,110,791-2,110,791
hg38 chr16:2,060,790-2,060,790 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001077183.2:c.1096G>A NP_001070651.1:p.Glu366Lys
NM_001114382.2:c.1096G>A NP_001107854.1:p.Glu366Lys
NM_001318832.1:c.1129G>A NP_001305761.1:p.Glu377Lys
Summary

MGeND

Clinical significance not provided
Variant entry 4
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 191092 OMIM
HGNC 12363 HGNC
Ensembl ENSG00000103197 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided ascending colon not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided bronchus or lung, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided bronchus or lung, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2024-01-25 criteria provided, conflicting interpretations tuberous sclerosis 2 germline Detail
Uncertain significance 2022-02-01 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Uncertain significance 2024-01-11 criteria provided, multiple submitters, no conflicts Tuberous sclerosis syndrome germline Detail
Likely benign 2021-02-07 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.494 tuberous sclerosis NA CLINVAR Detail
0.577 lymphangioleiomyomatosis NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000548.5(TSC2):c.1096G>A (p.Glu366Lys) AND Tuberous sclerosis 2 ClinVar Detail
NM_000548.5(TSC2):c.1096G>A (p.Glu366Lys) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000548.5(TSC2):c.1096G>A (p.Glu366Lys) AND Tuberous sclerosis syndrome ClinVar Detail
NM_000548.5(TSC2):c.1096G>A (p.Glu366Lys) AND not provided ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs45517148 dbSNP
Genome
hg19
Position
chr16:2,110,791-2,110,791
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8632
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120486
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.4899158408445795E-5
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